Variant information



Systematic Name c.1214_1230del17
Protein name p.Pro405fs
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.1214_1230del17 p.Pro405fs frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 4420